Achalasia Secondary to Neoplasia: A Disease with a Changing Differential Diagnosis

Abstract

Purpose: Achalasia secondary to neoplasia is a rare entity but prompt recognition is vital given the concern of missing a cancer diagnosis. Most case series of secondary achalasia occurred in prior decades raising the question of whether the causes have changed. Methods: We reviewed all cases of secondary achalasia seen at the Mayo Clinic from 2000 to 2011. Cases were assessed for 1) presentation, 2) underlying cause, 3) demographic and 4) clinical factors. Diagnosis was confirmed by reviewing imaging, pathology and esophageal manometry reports. Results: We identified 17 patients with achalasia secondary to neoplasia; which constitutes 1.5% (17/1117) of all patients with achalasia. Of this, 10 were males (median age 69 years, range 39-82). The most common cause was adenocarcinoma of the esophagus followed by non small cell lung cancer and breast cancer (Table 1). Interestingly, no cases of gastric cancer were identified. In all patients with cancer (n = 15) the diagnosis of achalasia was confirmed within 12 months of presentation. Of the cohort, 7 patients presented with achalasia before the diagnosis of cancer while 8 patients had known cancer, including 5 with metastatic disease. Most patients had rapid weight loss and acute onset of symptoms. Five patients had secondary achalasia manifested as a paraneoplastic syndrome, identified by the presence of paraneoplastic antibodies in four. Endoscopy with biopsy was diagnostic in only four patients with esophageal cancer and in one patient with lymphoma. CT failed to show a gastroesophageal junction mass in most patients. In one patient, EUS with FNA was required to confirm the presence of cancer. Prognosis was generally poor except for patients with esophageal leiomyomatosis.Table: No Caption available.Conclusion: This case series demonstrates a changing differential diagnosis for achalasia secondary to neoplasia with a higher number of patients presenting with a known primary and with a paraneoplastic syndrome. Presentation of achalasia with known metastatic disease was also common. These data follow the overall trend of decreasing gastric cancer and increasing esophageal adenocarcinoma. This also suggests that with improved survival for patients with some forms of metastatic cancer, new syndromes such as pseudoachalasia may emerge.